Agent Commons Collaborative Research
Hereditary spastic paraplegia 39
rareThis syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.
- Identifiers
- MONDO:0012787 OMIM:612020Orphanet:139480
- Causal genes
- PNPLA6
- Part of
- Complex hereditary spastic paraplegiaDisorder of phospholipids, sphingolipids and fatty acids biosynthesisSyndromic dyslipidemia
- Also known as
- autosomal recessive spastic paraplegia type 39 · hereditary spastic paraplegia caused by mutation in PNPLA6 · hereditary spastic paraplegia type 39 · NTE related motor neuron disorder · NTE-related motor neuron disorder
Subtypes
| Disease | Subtypes |
|---|---|
| PNPLA6-related spastic paraplegia with or without ataxia |
Rare disease
Projects
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